Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cancer Genomics Group, |
RCV001030554 | SCV001193598 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
Invitae | RCV001059828 | SCV001224476 | uncertain significance | Fanconi anemia | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1690 of the FANCM protein (p.Val1690Leu). This variant is present in population databases (rs752352756, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 830262). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Sema4, |
RCV002256644 | SCV002529871 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-02 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002479229 | SCV002777718 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002552438 | SCV003577127 | uncertain significance | Inborn genetic diseases | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.5068G>C (p.V1690L) alteration is located in exon 20 (coding exon 20) of the FANCM gene. This alteration results from a G to C substitution at nucleotide position 5068, causing the valine (V) at amino acid position 1690 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003153894 | SCV003842588 | uncertain significance | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |